A Girl With Two Syndromes: Turner Syndrome and Costello Syndrome. A Case HistorySKORKA, Agata; CIARA, Elzbieta; GIERUSZCZAK-BIATEK, Dorota et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 6, pp 1486-1488, issn 1552-4825, 3 p.Article

A MID1 Gene Mutation in a Patient With Opitz G/BBB Syndrome That Altered the 3D Structure of SPRY DomainHU, Ching-Hsuan; LIU, Yu-Fan; YU, Ju-Shan et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 726-731, issn 1552-4825, 6 p.Article

A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony [Dutch-German] Mennonite and Hutterite Patients in North AmericaLOUCKS, Catrina; PARBOOSINGH, Jillian S; INNES, A. Micheil et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1229-1232, issn 1552-4825, 4 p.Article

Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of MetabolismALAZAMI, Anas M; MONIES, Dorota; MEYER, Brian F et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 1, pp 245-246, issn 1552-4825, 2 p.Article

Does the 1.5 Mb Microduplication in Chromosome Band Xp22.31 Have a Pathogenetic Role? New Contribution and a Review of the LiteratureFALETRA, Flavio; PIO D'ADAMO, Adamo; SANTA ROCCA, Maria et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 2, pp 461-464, issn 1552-4825, 4 p.Article

Exclusion of Mutations in TGIF, ALX3, and ALX4 Genes in Patients With the Syndrome of Frontonasal Dysgenesis, Callosal Agenesis, Basal Encephalocele, and Eye AnomaliesRIBEIRO-BICUDO, Lucilene Arilho; QUIEZI, Rodrigo G; GUION-ALMEIDA, Maria Leine et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1233-1235, issn 1552-4825, 3 p.Article

FG Syndrome: The FGS2 Locus RevisitedPERCHE, Olivier; LAUDIER, Beatrice; MENUET, Arnaud et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 6, pp 1489-1492, issn 1552-4825, 4 p.Article

GPSM2 Mutations in Chudley―McCullough SyndromeDIAZ-HORTA, Oscar; SIRMACI, Asli; DOHERTY, Dan et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2972-2973, issn 1552-4825, 2 p.Article

Mosaic upd(7)mat in a Patient With Silver-Russell SyndromeFUKE-SATO, Tomoko; YAMAZAWA, Kazuki; NAKABAYASHI, Kazuhiko et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 2, pp 465-468, issn 1552-4825, 4 p.Article

Periventricular Heterotopia With White Matter Abnormalities Associated With 6p25 DeletionCELLINI, Elena; DISCIGLIO, Vittoria; NOVARA, Francesca et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1793-1797, issn 1552-4825, 5 p.Article

An Additional Family With Association of Hereditary Thrombocytosis and Transverse Limb Deficiency: Confirmation of a Rare Clinical SpectrumGRAZIANO, Claudio; DAVID, Michèle; MAGINI, Pamela et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 12, pp 3211-3213, issn 1552-4825, 3 p.Article

A New Report of Cornelia de Lange Syndrome Associated With Split Hand and FeetBARBONI, Chiara; CEREDA, Anna; MARIANI, Milena et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2953-2955, issn 1552-4825, 3 p.Article

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing LossPAGNAMENTA, Alistair T; MURRAY, Jennie E; KEAYS, David A et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2577-2582, issn 1552-4825, 6 p.Article

A Second Case of Contractures, Webbed Neck, Micrognathia, Hypoplastic Nipples, and Distinctive Facial Features: Confirmation of the Dinno SyndromeWALL, Nerilee; MCGAUGHRAN, Julie.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 836-838, issn 1552-4825, 3 p.Article

Adams-Oliver Syndrome and Portal Hypertension: Fortuitous Association or Common Mechanism?SILVA, Gisela; BRAGA, Alexandre; LEITAO, Banquart et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 3, pp 648-651, issn 1552-4825, 4 p.Article

Aging in Prader—Willi Syndrome: Twelve Persons Over the Age of 50 YearsSINNEMA, Margje; SCHRANDER-STUMPEL, Constance T. R. M; MAASKANT, Marian A et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 6, pp 1326-1336, issn 1552-4825, 11 p.Article

An 800 kb Deletion at 17q23.2 Including the MED13 (THRAP1) Gene, Revealed by aCGH in a Patient With a SMC 17pBOUTRY-KRYZA, Nadia; LABALME, Audrey; TILL, Marianne et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 2, pp 400-405, issn 1552-4825, 6 p.Article

An Inherited Disorder With Splenomegaly, Cytopenias, and Vision LossTANTRAVAHI, Srinivas K; WILLIAMS, Lloyd B; DIGRE, Kathleen B et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 3, pp 475-481, issn 1552-4825, 7 p.Article

An Inherited LMNA Gene Mutation in Atypical Progeria SyndromeDOUBAJ, Yassamine; DE SANDRE-GIOVANNOLI, Annachiara; VERA, Esteves-Vieira et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2881-2887, issn 1552-4825, 7 p.Article

Apolipoprotein E Genotype and Neurological Disease Onset in Niemann—Pick Disease, Type C1RAO FU; YANJANIN, Nicole M; ELRICK, Matthew J et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2775-2780, issn 1552-4825, 6 p.Article

Association of X-Linked Hydrocephalus and Hirschsprung Disease: Report of a New Patient With a Mutation in the L1CAM GeneFERNANDEZ, Raquel M; NUNEZ-TORRES, Rocío; GARCIA-DIAZ, Lutgardo et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 816-820, issn 1552-4825, 5 p.Article

Auriculo-Condylar Syndrome. Confronting a Diagnostic ChallengeMIZUE KOKITSU-NAKATA, Nancy; ZECHI-CEIDE, Roseli Maria; VENDRAMINI-PITTOLI, Siulan et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 1, pp 59-65, issn 1552-4825, 7 p.Article

Café-Au-Lait Macules and Intertriginous Freckling in Piebaldism: Clinical Overlap With Neurofibromatosis Type 1 and Legius SyndromeSTEVENS, Cathy A; CHIANG, Pei-Wen; MESSIAEN, Ludwine M et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1195-1199, issn 1552-4825, 5 p.Article

Characterization of a Novel KRAS Mutation Identified in Noonan SyndromeABDUR RAZZAQUE, Md; KOMOIKE, Yuta; NISHIZAWA, Tsutomu et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 3, pp 524-532, issn 1552-4825, 9 p.Article

Chronic Tibial Nonunion in a Rothmund—Thomson Syndrome PatientCARLSON, Aaron M; THOMAS, Kristen B; KIRMANI, Salman et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2250-2253, issn 1552-4825, 4 p.Article